RAB18

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Anophthalmia or microphthalmia

  BIALLELIC, autosomal or pseudoautosomal

• Bilateral congenital or childhood onset cataracts

  BIALLELIC, autosomal or pseudoautosomal

• Corneal abnormalities

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Malformations of cortical development

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Micro syndrome

  0.81

• Warburg micro syndrome

  0.58

• neurodegenerative disease

  0.50

• cerebral atherosclerosis

  0.29

• malunion fracture

  0.28

• adolescent idiopathic scoliosis

  0.24

• hereditary disease

  0.19

• skull disorder

  0.19

• alcohol drinking

  0.19

• acquired thrombocytopenia

  0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)